Incidental Mutation 'R8805:Mtus2'
| ID |
671996 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mtus2
|
| Ensembl Gene |
ENSMUSG00000029651 |
| Gene Name |
microtubule associated tumor suppressor candidate 2 |
| Synonyms |
C130038G02Rik, A730013O20Rik, 5730592G18Rik |
| MMRRC Submission |
068642-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.174)
|
| Stock # |
R8805 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
147894130-148252875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 148015303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 699
(M699L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085558]
[ENSMUST00000129092]
|
| AlphaFold |
Q3UHD3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000085558
AA Change: M699L
PolyPhen 2
Score 0.584 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000082694
Gene: ENSMUSG00000029651
AA Change: M699L
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
57 |
290 |
2.46e-5 |
PROSPERO |
|
internal_repeat_1
|
312 |
525 |
2.46e-5 |
PROSPERO |
|
low complexity region
|
530 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
802 |
818 |
N/A |
INTRINSIC |
|
low complexity region
|
841 |
852 |
N/A |
INTRINSIC |
|
low complexity region
|
893 |
904 |
N/A |
INTRINSIC |
|
coiled coil region
|
1029 |
1080 |
N/A |
INTRINSIC |
|
SCOP:d1fxkc_
|
1167 |
1294 |
3e-4 |
SMART |
|
low complexity region
|
1332 |
1349 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129092
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (70/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700010I14Rik |
G |
A |
17: 9,226,737 (GRCm39) |
W467* |
probably null |
Het |
| 4921509C19Rik |
A |
T |
2: 151,313,285 (GRCm39) |
|
probably benign |
Het |
| Actl6b |
G |
A |
5: 137,552,918 (GRCm39) |
M82I |
probably benign |
Het |
| Bmp2 |
T |
A |
2: 133,403,254 (GRCm39) |
D268E |
probably damaging |
Het |
| Cacng7 |
T |
A |
7: 3,415,298 (GRCm39) |
L221H |
probably damaging |
Het |
| Ccser2 |
A |
G |
14: 36,601,712 (GRCm39) |
V224A |
probably damaging |
Het |
| Cdc40 |
A |
G |
10: 40,733,576 (GRCm39) |
F125L |
probably damaging |
Het |
| Cfap46 |
C |
T |
7: 139,211,979 (GRCm39) |
A1669T |
unknown |
Het |
| Cfap58 |
A |
T |
19: 47,941,535 (GRCm39) |
E301V |
probably damaging |
Het |
| Clcn2 |
C |
A |
16: 20,532,168 (GRCm39) |
G96C |
probably damaging |
Het |
| Cotl1 |
T |
A |
8: 120,536,944 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
G |
A |
1: 67,216,110 (GRCm39) |
A812T |
probably damaging |
Het |
| Cracd |
T |
C |
5: 77,006,489 (GRCm39) |
V950A |
unknown |
Het |
| Crnkl1 |
T |
C |
2: 145,773,350 (GRCm39) |
|
probably null |
Het |
| Cry1 |
A |
G |
10: 84,992,969 (GRCm39) |
V83A |
probably benign |
Het |
| Cyp2a5 |
G |
T |
7: 26,540,530 (GRCm39) |
R381L |
probably damaging |
Het |
| Cyp46a1 |
T |
C |
12: 108,327,462 (GRCm39) |
F425L |
probably damaging |
Het |
| Dek |
A |
T |
13: 47,252,930 (GRCm39) |
N158K |
unknown |
Het |
| Dgcr8 |
T |
A |
16: 18,076,161 (GRCm39) |
Q674L |
probably damaging |
Het |
| Dlec1 |
C |
A |
9: 118,941,650 (GRCm39) |
S345R |
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,273,305 (GRCm39) |
C2478S |
possibly damaging |
Het |
| Dstyk |
T |
A |
1: 132,361,963 (GRCm39) |
L131Q |
probably damaging |
Het |
| Fbxw7 |
T |
A |
3: 84,862,227 (GRCm39) |
L186M |
|
Het |
| Fn1 |
T |
C |
1: 71,644,239 (GRCm39) |
Q1684R |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,813,453 (GRCm39) |
H3257Q |
possibly damaging |
Het |
| Gm5773 |
T |
C |
3: 93,681,042 (GRCm39) |
V238A |
probably damaging |
Het |
| Gm9611 |
T |
C |
14: 42,116,657 (GRCm39) |
D131G |
|
Het |
| Gpatch8 |
T |
C |
11: 102,371,018 (GRCm39) |
E840G |
unknown |
Het |
| Grm5 |
G |
A |
7: 87,453,176 (GRCm39) |
R271Q |
probably damaging |
Het |
| Has3 |
A |
T |
8: 107,601,135 (GRCm39) |
Y199F |
probably damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,315,393 (GRCm39) |
N3714S |
probably benign |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Il2 |
T |
A |
3: 37,177,282 (GRCm39) |
T85S |
possibly damaging |
Het |
| Kank4 |
T |
C |
4: 98,668,273 (GRCm39) |
H58R |
possibly damaging |
Het |
| Kcnk4 |
T |
A |
19: 6,905,379 (GRCm39) |
I154F |
probably damaging |
Het |
| Krt1c |
T |
C |
15: 101,724,379 (GRCm39) |
K295R |
possibly damaging |
Het |
| Lipm |
A |
T |
19: 34,090,308 (GRCm39) |
D163V |
probably damaging |
Het |
| Lpl |
A |
G |
8: 69,340,215 (GRCm39) |
N70S |
probably damaging |
Het |
| Mgme1 |
A |
G |
2: 144,114,451 (GRCm39) |
|
probably benign |
Het |
| Mnd1 |
T |
A |
3: 83,995,432 (GRCm39) |
E187D |
probably benign |
Het |
| Morn5 |
A |
G |
2: 35,969,533 (GRCm39) |
D149G |
probably benign |
Het |
| Mrrf |
G |
A |
2: 36,037,965 (GRCm39) |
V79I |
probably damaging |
Het |
| Msh4 |
T |
A |
3: 153,563,270 (GRCm39) |
Q896L |
probably benign |
Het |
| Mycbp |
T |
A |
4: 123,803,880 (GRCm39) |
C130S |
unknown |
Het |
| Ntn5 |
A |
T |
7: 45,333,899 (GRCm39) |
Y4F |
probably benign |
Het |
| Or7e174 |
T |
C |
9: 20,012,580 (GRCm39) |
V175A |
probably benign |
Het |
| Osm |
A |
G |
11: 4,189,839 (GRCm39) |
S208G |
probably benign |
Het |
| Pcsk6 |
T |
A |
7: 65,578,891 (GRCm39) |
Y222N |
possibly damaging |
Het |
| Pde6a |
A |
G |
18: 61,390,104 (GRCm39) |
E486G |
probably benign |
Het |
| Pdzk1 |
T |
A |
3: 96,758,910 (GRCm39) |
L105Q |
possibly damaging |
Het |
| Prkd1 |
C |
G |
12: 50,435,155 (GRCm39) |
S524T |
probably benign |
Het |
| Prkd1 |
T |
A |
12: 50,435,156 (GRCm39) |
S524C |
probably damaging |
Het |
| Rab4b |
T |
C |
7: 26,874,148 (GRCm39) |
I90V |
|
Het |
| Rc3h1 |
T |
C |
1: 160,795,222 (GRCm39) |
V1083A |
probably benign |
Het |
| Rfx7 |
C |
T |
9: 72,524,316 (GRCm39) |
T502I |
probably benign |
Het |
| Rtn4rl2 |
T |
C |
2: 84,702,558 (GRCm39) |
Y332C |
probably damaging |
Het |
| Senp2 |
A |
G |
16: 21,846,789 (GRCm39) |
T265A |
probably benign |
Het |
| Slc38a3 |
T |
C |
9: 107,532,345 (GRCm39) |
M396V |
probably benign |
Het |
| Sord |
G |
A |
2: 122,094,607 (GRCm39) |
V332I |
probably benign |
Het |
| Sprr1b |
GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGAGCCTTGGGATGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA |
GTGGCAGGGCTCAGGAGCCTTGGGGTGGCAGGGCTCAGGA |
3: 92,344,653 (GRCm39) |
|
probably benign |
Het |
| Star |
G |
A |
8: 26,299,577 (GRCm39) |
R53H |
probably benign |
Het |
| Stard4 |
T |
G |
18: 33,336,749 (GRCm39) |
I189L |
possibly damaging |
Het |
| Stk38 |
G |
T |
17: 29,219,094 (GRCm39) |
T7K |
probably benign |
Het |
| Stxbp5 |
T |
A |
10: 9,713,859 (GRCm39) |
K227* |
probably null |
Het |
| Taf4b |
C |
T |
18: 14,946,485 (GRCm39) |
P436L |
possibly damaging |
Het |
| Tgm3 |
T |
A |
2: 129,889,702 (GRCm39) |
V632E |
probably damaging |
Het |
| Tmem158 |
A |
G |
9: 123,089,309 (GRCm39) |
F101S |
probably damaging |
Het |
| Trmt10b |
T |
C |
4: 45,301,281 (GRCm39) |
S77P |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,720,307 (GRCm39) |
L6973* |
probably null |
Het |
| Tubal3 |
T |
C |
13: 3,983,293 (GRCm39) |
F358L |
probably damaging |
Het |
| Tut4 |
T |
C |
4: 108,406,575 (GRCm39) |
V1381A |
possibly damaging |
Het |
| Vmn1r214 |
C |
T |
13: 23,219,273 (GRCm39) |
L256F |
possibly damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,282,396 (GRCm39) |
V740A |
probably benign |
Het |
| Yipf1 |
A |
T |
4: 107,193,355 (GRCm39) |
E80D |
probably benign |
Het |
| Zdhhc2 |
G |
T |
8: 40,898,846 (GRCm39) |
|
probably null |
Het |
| Zfp655 |
C |
T |
5: 145,181,290 (GRCm39) |
H383Y |
probably damaging |
Het |
| Zfp981 |
C |
T |
4: 146,622,410 (GRCm39) |
T445I |
possibly damaging |
Het |
|
| Other mutations in Mtus2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01104:Mtus2
|
APN |
5 |
148,013,819 (GRCm39) |
splice site |
probably null |
|
|
IGL01911:Mtus2
|
APN |
5 |
148,015,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01973:Mtus2
|
APN |
5 |
148,240,286 (GRCm39) |
splice site |
probably benign |
|
|
IGL02452:Mtus2
|
APN |
5 |
148,014,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02476:Mtus2
|
APN |
5 |
148,014,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02716:Mtus2
|
APN |
5 |
148,173,120 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03194:Mtus2
|
APN |
5 |
148,043,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
rumblado
|
UTSW |
5 |
148,243,518 (GRCm39) |
nonsense |
probably null |
|
|
IGL02991:Mtus2
|
UTSW |
5 |
148,250,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4431001:Mtus2
|
UTSW |
5 |
148,013,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0101:Mtus2
|
UTSW |
5 |
148,019,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0101:Mtus2
|
UTSW |
5 |
148,019,845 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0310:Mtus2
|
UTSW |
5 |
148,043,829 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0729:Mtus2
|
UTSW |
5 |
148,014,097 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0968:Mtus2
|
UTSW |
5 |
148,014,994 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1231:Mtus2
|
UTSW |
5 |
148,014,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1253:Mtus2
|
UTSW |
5 |
148,240,380 (GRCm39) |
nonsense |
probably null |
|
|
R1556:Mtus2
|
UTSW |
5 |
148,014,198 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1561:Mtus2
|
UTSW |
5 |
148,013,362 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1574:Mtus2
|
UTSW |
5 |
148,013,362 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1750:Mtus2
|
UTSW |
5 |
148,214,443 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2318:Mtus2
|
UTSW |
5 |
148,043,892 (GRCm39) |
nonsense |
probably null |
|
|
R2327:Mtus2
|
UTSW |
5 |
148,014,725 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3153:Mtus2
|
UTSW |
5 |
148,019,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3154:Mtus2
|
UTSW |
5 |
148,240,083 (GRCm39) |
intron |
probably benign |
|
|
R3158:Mtus2
|
UTSW |
5 |
148,168,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3548:Mtus2
|
UTSW |
5 |
148,232,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3861:Mtus2
|
UTSW |
5 |
148,250,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4395:Mtus2
|
UTSW |
5 |
148,013,432 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4396:Mtus2
|
UTSW |
5 |
148,140,748 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4667:Mtus2
|
UTSW |
5 |
148,235,070 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R4887:Mtus2
|
UTSW |
5 |
148,013,913 (GRCm39) |
nonsense |
probably null |
|
|
R4931:Mtus2
|
UTSW |
5 |
148,014,226 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5097:Mtus2
|
UTSW |
5 |
148,232,392 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5318:Mtus2
|
UTSW |
5 |
148,013,382 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5372:Mtus2
|
UTSW |
5 |
148,250,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5388:Mtus2
|
UTSW |
5 |
148,243,518 (GRCm39) |
nonsense |
probably null |
|
|
R5622:Mtus2
|
UTSW |
5 |
148,015,244 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6009:Mtus2
|
UTSW |
5 |
148,243,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Mtus2
|
UTSW |
5 |
148,014,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6409:Mtus2
|
UTSW |
5 |
148,014,425 (GRCm39) |
missense |
probably benign |
|
|
R6527:Mtus2
|
UTSW |
5 |
148,214,408 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6853:Mtus2
|
UTSW |
5 |
148,043,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7001:Mtus2
|
UTSW |
5 |
148,214,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7187:Mtus2
|
UTSW |
5 |
148,013,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7276:Mtus2
|
UTSW |
5 |
148,013,368 (GRCm39) |
missense |
probably benign |
|
|
R7594:Mtus2
|
UTSW |
5 |
148,014,216 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7790:Mtus2
|
UTSW |
5 |
148,014,998 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7967:Mtus2
|
UTSW |
5 |
148,014,656 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7987:Mtus2
|
UTSW |
5 |
148,168,836 (GRCm39) |
splice site |
probably null |
|
|
R8112:Mtus2
|
UTSW |
5 |
148,013,713 (GRCm39) |
nonsense |
probably null |
|
|
R8273:Mtus2
|
UTSW |
5 |
148,043,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8527:Mtus2
|
UTSW |
5 |
148,240,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8542:Mtus2
|
UTSW |
5 |
148,240,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Mtus2
|
UTSW |
5 |
148,019,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9204:Mtus2
|
UTSW |
5 |
148,238,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9210:Mtus2
|
UTSW |
5 |
148,014,124 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9261:Mtus2
|
UTSW |
5 |
148,243,453 (GRCm39) |
nonsense |
probably null |
|
|
R9419:Mtus2
|
UTSW |
5 |
148,243,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9477:Mtus2
|
UTSW |
5 |
148,014,740 (GRCm39) |
missense |
probably benign |
|
|
R9483:Mtus2
|
UTSW |
5 |
148,232,300 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9563:Mtus2
|
UTSW |
5 |
148,250,217 (GRCm39) |
missense |
|
|
|
R9643:Mtus2
|
UTSW |
5 |
148,014,025 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9716:Mtus2
|
UTSW |
5 |
148,013,464 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9745:Mtus2
|
UTSW |
5 |
148,013,311 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
X0017:Mtus2
|
UTSW |
5 |
148,214,410 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
X0028:Mtus2
|
UTSW |
5 |
148,014,128 (GRCm39) |
missense |
probably benign |
0.03 |
|
Z1088:Mtus2
|
UTSW |
5 |
148,240,073 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Mtus2
|
UTSW |
5 |
148,014,068 (GRCm39) |
missense |
probably benign |
0.05 |
|
Z1176:Mtus2
|
UTSW |
5 |
148,013,552 (GRCm39) |
missense |
probably benign |
0.31 |
|
Z1177:Mtus2
|
UTSW |
5 |
148,140,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGGGAGATGCTTCACTGG -3'
(R):5'- TCTGCAGTTCACTTACAGAGG -3'
Sequencing Primer
(F):5'- GAGATGCTTCACTGGTCCCC -3'
(R):5'- GCAGTTCACTTACAGAGGACATTTTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation